无创产前检测在性染色体疾病筛查中的研究进展  

Research progress of non-invasive prenatal testing in the screening of sex chromosomal diseases

作　　者：齐政[1] 翟春雅 袁碧波[1] QI Zheng;ZHAI Chunya;YUAN Bibo(General Hospital of Tianjin Medial University,Tianjin Key Laboratory of Female Reproductive Health and Eugenics,Tianjin,300052)

机构地区：[1]天津医科大学总医院天津市女性生殖健康与优生重点实验室,300052

出　　处：《中国计划生育学杂志》2021年第5期1072-1076,共5页Chinese Journal of Family Planning

摘　　要：无创产前检测(NIPT)技术是利用高通量测序技术对孕妇外周血中胎儿游离DNA进行测序及生物信息分析,从而进行胎儿染色体非整倍体异常的筛查。无创产前检测具有较高的灵敏度及特异性和较低的假阳性率,被广泛应用于染色体非整倍体疾病的筛查。与其他染色体疾病相比,性染色体疾病少见。NIPT可以筛查性染色体异常,进一步预测胎儿结局,从而降低缺陷儿的出生率。NIPT对于13-三体、18-三体及21-三体的筛查准确率较高,关于该技术对于性染色体疾病筛查的研究不多。本文就NIPT在性染色体异常疾病筛查中的临床研究进展及影响因素进行综述,为应用NIPT筛查性染色体疾病提供参考依据。Non-invasive prenatal testing(NIPT)is used to screen fetal chromosomal aneuploidies through high-throughput sequencing technology with cell-free fetal DNA in maternal plasma, which has the advantage of high sensitivity and specificity with low false positive rate, thus, it is widely used in the screening of chromosomal aneuploidy. Compared with other chromosomal disorders, sex chromosome disorders are rare. NIPT can detect fetal sex chromosome abnormalities, and can predict the fetal outcomes, so as to reduce the incidence of birth defects. The accuracy of NIPT for screening trisomy 13, trisomy 18, or trisomy 21 is reliable, however, there are few studies on the screening fetal sex chromosome diseases by NIPT. To provide evidences for the application of NIPT for screening sex chromosome disorders, this article reviews the clinical research progress and influencing factors of NIPT for screening sex chromosome disorders.

关 键 词：产前诊断 无创产前检测 胎儿游离DNA 染色体畸变 性染色体非整倍体异常 

分 类 号：R714.5[医药卫生—妇产科学]